Grandes deleções raras no CFTR

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Férec C, Casals T, Chuzhanova N, Macek M, Jr, Bienvenu T, Holubova A, et al. Gross genomic rearrangements involving deletions in the CFTR gene: characterization of six new events from a large cohort of hitherto unidentified cystic fibrosis chromosomes

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Yang B, Lei C, Yang D, Tan Z, Guo T, Luo H. Wholeexome sequencing identified CFTR variants in two consanguineous families in China. Front Genet. 2021;12:929. https://doi.org/10.3389/fgene.2021.631221

Roelse JED, Bouva MJ, Jakobs BS, Janssens HM, Groot KMW, Schönbeck Y, Gile JJP, Gulmans VAM, Puite RKV, Schielen PCJI et al. Newborn blood spot screening for cystic fibrosis with a four-step screening strategy in the Netherlands. J Cyst Fibros. 2019;18(1):54-63. https://doi.org/10.1016/j.jcf.2018.07.008

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Essawi O, Farraj M, De Leeneer K, Steyaert W, De Pauw K, De Paepe A, et al. Next generation sequencing to determine the cystic fibrosis mutation spectrum in Palestinian population. Disease Markers 2015;2015. https://doi.org/10.1155/2015/458653

US CF Founfation. The clinical and functional translation of CFTR (CFTR2) [Internet]. Cftr2.org. Copyright 2011 US CF Foundation, John Hopkins University, The Hospital for Sick Children; 2023 [cited 2023 Oct 16]. Available from: https://cftr2.org.

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